Aria Diagnostics Emerges From Stealth With New Blood-Based Prenatal Test

If you’re thinking about getting pregnant or know someone who is, take note: A blood sample from a pregnant mother and a new DNA test from a company called Aria Diagnostics may eliminate the need for invasive prenatal tests like amniocentesis for a number of women.

Aria, a private San Jose, Calif. company, has been operating in stealth for slightly more than a year and a half. Details and clinical data on its new noninvasive prenatal diagnostic test, which detects the genetic roots of Down Syndrome, were just published in the medical journal Prenatal Diagnosis. Aria aims to begin offering its test sometime in the first half of this year.

The Aria test uses a tube of the pregnant mother’s blood to determine whether the fetus has the genetic condition -- called Trisomy 21 -- that causes Down Syndrome. This test is possible because a pregnant mother’s blood contains fetal DNA. Aria extracts the relevant genetic material from the blood plasma, and then sequences the DNA using high-powered genetic sequencing machines made by Illumina.

Aria is not the first company to offer such a test, but it plans to do so for a fraction of the price that competitor Sequenom charges. Sequenom’s cash price for its MaterniT21 test, launched in October last year, is $1900. Song says Aria’s test will cost “hundreds of dollars,” but declined to be more specific. For the Aria test, the blood from the pregnant mother can be taken in a doctor’s office. Aria will do the testing in its lab in San Jose.

Aria has raised a total of $67.5 million, including a $52.7 million injection in December 2011 from investors including Meritech, Venrock, Domain Partners and a large (unnamed) mutual fund company. It has assembled a team of executives and employees with decades of experience in the field of genetic sequencing. John Stuelpnagel, executive chairman of Aria, was one of the co-founders of Illumina and that company’s first CEO. Aria CEO Ken Song is a licensed physician and an entrepreneur.

Companies have been trying to produce a non-invasive prenatal test for at least 20 years, says Dr. Ronald Wapner, a professor of obstetrics-gynecology and director of Maternal Fetal Medicine at Columbia University Medical Center and an expert on first semester prenatal testing. “Many of us have been gigantic skeptics. Now, everyone believes this can be done. There are no more skeptics,” he says.

Wapner scoffs at the high cost of Sequenom’s test. “A test would have to be less than $1,000 to abandon nuchal translucency”—which is the standard noninvasive test currently done using ultrasound to test for the risk of Down’s Syndrome.

Many women with high-risk pregnancies are anxious about taking an amniocentesis test to determine genetic and chromosomal problems because the test carries a small risk of miscarriage. Wapner says the risk is low but the test has its own challenge: “The issue is not the real risk [of miscarriage]. It’s knowing that you are making a conscious decision that could cause you to lose the fetus.”

However, amniocentesis has an advantage in that it tests for a variety of chromosomal and genetic issues. In addition to Trisomy 21, the Aria test also evaluates for a rare genetic condition called Trisomy 18, which leads to something called Edwards Syndrome; most children with this syndrome only live a year or two. Over time, Aria aims to increase the range of genetic issues it tests for.